ClinVar Miner

List of variants reported as pathogenic for ALG11-CDG

Included ClinVar conditions (1):
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Total variants: 9
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NM_001004127.3(ALG11):c.1142T>C (p.Leu381Ser) rs387907182
NM_001004127.3(ALG11):c.1192G>A (p.Glu398Lys) rs387907183
NM_001004127.3(ALG11):c.1223T>G (p.Met408Arg) rs1064795803
NM_001004127.3(ALG11):c.137T>C (p.Leu46Pro) rs794727256
NM_001004127.3(ALG11):c.257T>C (p.Leu86Ser) rs267606652
NM_001004127.3(ALG11):c.623_642del (p.Ser208fs) rs387907180
NM_001004127.3(ALG11):c.836A>C (p.Tyr279Ser) rs387907181
NM_001004127.3(ALG11):c.935A>G (p.Glu312Gly) rs1064795802
NM_001004127.3(ALG11):c.953A>C (p.Gln318Pro) rs387907184

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